rs2376227

Homo sapiens
C>A
LOC107987043 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0358 (10733/29932,GnomAD)
A=0365 (10641/29118,TOPMED)
A=0418 (2093/5008,1000G)
A=0303 (1167/3854,ALSPAC)
A=0289 (1070/3708,TWINSUK)
chr9:2237390 (GRCh38.p7) (9p24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
42 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.2237390C>A
GRCh37.p13 chr 9NC_000009.11:g.2237390C>A

Gene: LOC107987043, uncharacterized LOC107987043(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107987043 transcript variant X1XR_001746600.1:n.N/AIntron Variant
LOC107987043 transcript variant X2XR_001746601.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.561A=0.439
1000GenomesAmericanSub694C=0.600A=0.400
1000GenomesEast AsianSub1008C=0.463A=0.537
1000GenomesEuropeSub1006C=0.697A=0.303
1000GenomesGlobalStudy-wide5008C=0.582A=0.418
1000GenomesSouth AsianSub978C=0.600A=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.697A=0.303
The Genome Aggregation DatabaseAfricanSub8700C=0.576A=0.424
The Genome Aggregation DatabaseAmericanSub838C=0.580A=0.420
The Genome Aggregation DatabaseEast AsianSub1618C=0.464A=0.536
The Genome Aggregation DatabaseEuropeSub18474C=0.687A=0.312
The Genome Aggregation DatabaseGlobalStudy-wide29932C=0.641A=0.358
The Genome Aggregation DatabaseOtherSub302C=0.800A=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.634A=0.365
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.711A=0.289
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs23762270.00059alcohol dependence20201924

eQTL of rs2376227 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs2376227 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr922604832261361E06723093
chr922342782234925E068-2465
chr922349512235088E068-2302
chr922351352235271E068-2119
chr922604832261361E06823093
chr922604832261361E06923093
chr922340362234199E070-3191
chr922342782234925E070-2465
chr922604832261361E07023093
chr922622172262281E07024827
chr922623652262429E07024975
chr922625272262623E07025137
chr922626672263069E07025277
chr922631062263191E07025716
chr922632422263409E07025852
chr922342782234925E071-2465
chr922349512235088E071-2302
chr922604832261361E07123093
chr922604832261361E07223093
chr922604832261361E07423093
chr922340362234199E081-3191
chr922342782234925E081-2465
chr922349512235088E081-2302
chr922351352235271E081-2119
chr922352802235334E081-2056
chr922353792235459E081-1931
chr922435082243587E0816118
chr922623652262429E08124975
chr922625272262623E08125137
chr922626672263069E08125277
chr922631062263191E08125716
chr922632422263409E08125852
chr922670632267910E08129673
chr922342782234925E082-2465
chr922349512235088E082-2302
chr922351352235271E082-2119
chr922403702240435E0822980
chr922405172240567E0823127
chr922604832261361E08223093
chr922626672263069E08225277
chr922631062263191E08225716
chr922632422263409E08225852









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr922409252243503E0673535
chr922409252243503E0683535
chr922409252243503E0693535
chr922409252243503E0703535
chr922409252243503E0713535
chr922409252243503E0723535
chr922409252243503E0733535
chr922409252243503E0743535
chr922409252243503E0823535